Mutagenetix > Incidental Mutation

Incidental Mutation 'R5243:Nceh1'

400968

Institutional Source

Beutler Lab

Gene Symbol

Nceh1

Ensembl Gene

ENSMUSG00000027698

Gene Name

neutral cholesterol ester hydrolase 1

Synonyms

mKIAA1363, CPO-BP, Aadacl1, B230106I24Rik

MMRRC Submission

042814-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R5243 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27237153-27299112 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27295837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 366 (V366A)

Ref Sequence

ENSEMBL: ENSMUSP00000045864 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046515] [ENSMUST00000091284]

AlphaFold

Q8BLF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000046515
AA Change: V366A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045864
Gene: ENSMUSG00000027698
AA Change: V366A

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:Abhydrolase_3	109	290	6.6e-36	PFAM
Pfam:Abhydrolase_3	294	382	3.6e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000091284

SMART Domains

Protein: ENSMUSP00000088829
Gene: ENSMUSG00000027698

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:Abhydrolase_3	109	152	6.5e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140872

Meta Mutation Damage Score

0.1919

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

95% (62/65)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal organophosphorus metabolism and cholesterol homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,956,543 (GRCm39)		probably null	Het
Aatk	A	G	11: 119,907,594 (GRCm39)	L78P	probably damaging	Het
Acadsb	T	A	7: 131,045,972 (GRCm39)	I412K	probably damaging	Het
Acer3	T	C	7: 97,867,277 (GRCm39)	R246G	possibly damaging	Het
Atp1a3	T	A	7: 24,693,994 (GRCm39)	I387F	probably damaging	Het
Atp6v1b2	A	T	8: 69,556,391 (GRCm39)	M300L	probably benign	Het
Aurkb	T	A	11: 68,936,752 (GRCm39)		probably benign	Het
Card10	C	A	15: 78,664,872 (GRCm39)	G694V	possibly damaging	Het
Ccdc171	A	G	4: 83,522,344 (GRCm39)	N336S	probably damaging	Het
Copg2	T	C	6: 30,750,626 (GRCm39)	T720A	probably benign	Het
Coro2a	A	T	4: 46,545,620 (GRCm39)	W272R	probably damaging	Het
Cpne6	T	A	14: 55,750,204 (GRCm39)	C112S	probably damaging	Het
Ddx21	A	G	10: 62,437,992 (GRCm39)	M1T	probably null	Het
Dohh	A	G	10: 81,223,203 (GRCm39)	R161G	probably benign	Het
Dsc1	A	C	18: 20,232,216 (GRCm39)	V264G	probably damaging	Het
E4f1	A	T	17: 24,666,292 (GRCm39)	C198S	probably damaging	Het
Evpl	T	A	11: 116,113,795 (GRCm39)	E1298D	probably damaging	Het
Grid2ip	A	T	5: 143,363,260 (GRCm39)	I246F	probably damaging	Het
H2-M1	A	G	17: 36,982,193 (GRCm39)	F136S	possibly damaging	Het
Hck	T	C	2: 152,986,412 (GRCm39)	V387A	probably damaging	Het
Hdac1	G	A	4: 129,410,646 (GRCm39)		probably benign	Het
Hydin	A	C	8: 111,232,380 (GRCm39)	Q1633P	possibly damaging	Het
Igkv12-41	A	G	6: 69,835,686 (GRCm39)	I22T	probably damaging	Het
Ints3	CA	CAA	3: 90,308,451 (GRCm39)		probably null	Het
Itpr2	C	G	6: 146,089,044 (GRCm39)	W2188C	probably damaging	Het
Kcnt1	A	G	2: 25,798,086 (GRCm39)	E899G	probably damaging	Het
Lgals8	C	A	13: 12,469,645 (GRCm39)	V12L	probably benign	Het
Lgr6	T	C	1: 135,037,010 (GRCm39)		probably benign	Het
Lrrc8b	T	G	5: 105,628,812 (GRCm39)	I386S	probably damaging	Het
Mks1	T	C	11: 87,747,504 (GRCm39)		probably benign	Het
Mon1b	A	G	8: 114,364,553 (GRCm39)	D110G	possibly damaging	Het
Mpdz	G	T	4: 81,225,116 (GRCm39)	A1437E	probably damaging	Het
Nbeal1	T	A	1: 60,309,487 (GRCm39)	N1753K	probably damaging	Het
Ncor1	A	T	11: 62,229,788 (GRCm39)	D893E	probably damaging	Het
Npc1	T	A	18: 12,331,688 (GRCm39)		probably benign	Het
Or1j15	T	C	2: 36,458,655 (GRCm39)	L15P	probably damaging	Het
Or9i1b	A	G	19: 13,897,025 (GRCm39)	I214V	probably damaging	Het
Podxl2	T	C	6: 88,826,356 (GRCm39)	T317A	probably benign	Het
Prl8a9	T	G	13: 27,746,446 (GRCm39)	Q54P	probably damaging	Het
Prpf31	C	T	7: 3,641,753 (GRCm39)	R351*	probably null	Het
Pspc1	C	T	14: 57,001,648 (GRCm39)	G242D	probably damaging	Het
Rbmxl2	G	C	7: 106,809,044 (GRCm39)	G110R	probably damaging	Het
Rif1	T	A	2: 52,001,836 (GRCm39)	H1763Q	possibly damaging	Het
Rpusd3	T	C	6: 113,395,025 (GRCm39)	T85A	probably benign	Het
Rttn	A	G	18: 89,126,187 (GRCm39)	I1853M	possibly damaging	Het
Sacs	T	A	14: 61,443,406 (GRCm39)	C1817*	probably null	Het
Scrib	A	T	15: 75,937,101 (GRCm39)	V335E	probably benign	Het
Sdk2	A	G	11: 113,715,912 (GRCm39)	L1549P	possibly damaging	Het
Slc25a11	C	T	11: 70,536,924 (GRCm39)	G44S	probably damaging	Het
Slc6a3	A	G	13: 73,719,570 (GRCm39)	Y533C	possibly damaging	Het
Slc7a5	A	G	8: 122,623,274 (GRCm39)	V191A	probably damaging	Het
Son	A	G	16: 91,451,621 (GRCm39)	K123E	probably damaging	Het
Tcstv3	T	A	13: 120,779,125 (GRCm39)	M8K	probably benign	Het
Tie1	A	G	4: 118,339,548 (GRCm39)	V411A	probably damaging	Het
Upk3bl	C	A	5: 136,088,977 (GRCm39)	D1E	possibly damaging	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Vmn2r75	T	C	7: 85,813,447 (GRCm39)	N452D	probably damaging	Het
Wnk2	T	A	13: 49,226,054 (GRCm39)	N1043I	possibly damaging	Het
Zfp407	A	T	18: 84,579,216 (GRCm39)	H632Q	probably damaging	Het
Zfp423	T	C	8: 88,500,275 (GRCm39)	K1174R	probably benign	Het

Other mutations in Nceh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Nceh1	APN	3	27,295,462 (GRCm39)	missense	probably damaging	1.00
IGL02113:Nceh1	APN	3	27,277,040 (GRCm39)	missense	probably damaging	1.00
cerdo	UTSW	3	27,295,420 (GRCm39)	nonsense	probably null
BB006:Nceh1	UTSW	3	27,333,396 (GRCm39)	missense	probably benign	0.00
BB016:Nceh1	UTSW	3	27,333,396 (GRCm39)	missense	probably benign	0.00
R0281:Nceh1	UTSW	3	27,276,953 (GRCm39)	missense	possibly damaging	0.64
R0854:Nceh1	UTSW	3	27,295,468 (GRCm39)	missense	probably damaging	1.00
R1562:Nceh1	UTSW	3	27,293,701 (GRCm39)	missense	probably damaging	1.00
R1689:Nceh1	UTSW	3	27,280,231 (GRCm39)	missense	probably damaging	0.99
R1918:Nceh1	UTSW	3	27,237,324 (GRCm39)	missense	probably damaging	1.00
R2851:Nceh1	UTSW	3	27,295,504 (GRCm39)	missense	probably damaging	1.00
R3959:Nceh1	UTSW	3	27,333,345 (GRCm39)	missense	probably benign	0.01
R4420:Nceh1	UTSW	3	27,295,798 (GRCm39)	missense	probably damaging	1.00
R4686:Nceh1	UTSW	3	27,295,818 (GRCm39)	missense	probably damaging	1.00
R5165:Nceh1	UTSW	3	27,295,677 (GRCm39)	missense	probably benign
R5255:Nceh1	UTSW	3	27,237,288 (GRCm39)	missense	probably damaging	0.96
R5598:Nceh1	UTSW	3	27,280,248 (GRCm39)	missense	probably benign	0.01
R6076:Nceh1	UTSW	3	27,333,344 (GRCm39)	missense	probably benign	0.00
R6337:Nceh1	UTSW	3	27,276,956 (GRCm39)	missense	probably damaging	0.96
R6729:Nceh1	UTSW	3	27,295,420 (GRCm39)	nonsense	probably null
R6744:Nceh1	UTSW	3	27,295,938 (GRCm39)	missense	probably damaging	1.00
R7618:Nceh1	UTSW	3	27,237,366 (GRCm39)	critical splice donor site	probably null
R7749:Nceh1	UTSW	3	27,261,531 (GRCm39)	missense	probably benign
R7929:Nceh1	UTSW	3	27,333,396 (GRCm39)	missense	probably benign	0.00
R8040:Nceh1	UTSW	3	27,295,374 (GRCm39)	missense	probably benign	0.00
R8350:Nceh1	UTSW	3	27,293,813 (GRCm39)	missense	probably damaging	0.99
R8450:Nceh1	UTSW	3	27,293,813 (GRCm39)	missense	probably damaging	0.99
R8969:Nceh1	UTSW	3	27,276,885 (GRCm39)	missense	probably null	0.00
R9004:Nceh1	UTSW	3	27,293,726 (GRCm39)	missense	possibly damaging	0.81
R9202:Nceh1	UTSW	3	27,333,428 (GRCm39)	missense	probably benign	0.00
R9242:Nceh1	UTSW	3	27,293,777 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCGACTGGACATCCCTGTTG -3'
(R):5'- CAAACGGAGGTCAAGAGCTTC -3'

Sequencing Primer
(F):5'- TGTTGCCCTCGTCCATCAAAAAG -3'
(R):5'- CATGCGTCTGAGGAGTTTCC -3'

Posted On

2016-07-06